15 | g.48612908A>T | CA2628338201 | FBN1 | c.247+102T>A (n.247+102T>A)
| gnomAD v4 |
15 | g.48612909G>A | CA270060661 | FBN1 | c.247+101C>T (n.247+101C>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612909G>C | CA2628338202 | FBN1 | c.247+101C>G (n.247+101C>G)
| gnomAD v4 |
15 | g.48612909G= | CA2175574411 | FBN1 | c.247+101C= (n.247+101C=)
| |
15 | g.48612910del | CA2628338203 | FBN1 | c.247+100del (n.247+100del)
| gnomAD v4 |
15 | g.48612912T>A | CA2575717790 | FBN1 | c.247+98A>T (n.247+98A>T)
| |
15 | g.48612913A>G | CA2628338204 | FBN1 | c.247+97T>C (n.247+97T>C)
| gnomAD v4 |
15 | g.48612913A>T | CA2575717791 | FBN1 | c.247+97T>A (n.247+97T>A)
| gnomAD v4 |
15 | g.48612914del | CA2804074515 | FBN1 | c.247+97del (n.247+97del)
| |
15 | g.48612914A>G | CA2628338205 | FBN1 | c.247+96T>C (n.247+96T>C)
| gnomAD v4 |
15 | g.48612915T>A | CA2581214202 | FBN1 | c.247+95A>T (n.247+95A>T)
| |
15 | g.48612915T>C | CA270060666 | FBN1 | c.247+95A>G (n.247+95A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48612915T>G | CA2581214203 | FBN1 | c.247+95A>C (n.247+95A>C)
| |
15 | g.48612915T= | CA2175574412 | FBN1 | c.247+95A= (n.247+95A=)
| |
15 | g.48612916A= | CA2175574413 | FBN1 | c.247+94T= (n.247+94T=)
| |
15 | g.48612916A>G | CA2628338206 | FBN1 | c.247+94T>C (n.247+94T>C)
| gnomAD v4 |
15 | g.48612916A>T | CA617942926 | FBN1 | c.247+94T>A (n.247+94T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48612917G>A | CA656136127 | FBN1 | c.247+93C>T (n.247+93C>T)
| COSMIC |
15 | g.48612917G>C | CA2175574415 | FBN1 | c.247+93C>G (n.247+93C>G)
| dbSNP |
15 | g.48612917G= | CA2175574414 | FBN1 | c.247+93C= (n.247+93C=)
| |
15 | g.48612917G>T | CA2628338207 | FBN1 | c.247+93C>A (n.247+93C>A)
| gnomAD v4 |
15 | g.48612918T>C | CA2175574416 | FBN1 | c.247+92A>G (n.247+92A>G)
| dbSNP gnomAD v4 |
15 | g.48612918T= | CA2175574417 | FBN1 | c.247+92A= (n.247+92A=)
| |
15 | g.48612919A>G | CA2628338208 | FBN1 | c.247+91T>C (n.247+91T>C)
| gnomAD v4 |
15 | g.48612919A>T | CA2628338209 | FBN1 | c.247+91T>A (n.247+91T>A)
| gnomAD v4 |
15 | g.48612921A>C | CA2628338210 | FBN1 | c.247+89T>G (n.247+89T>G)
| gnomAD v4 |
15 | g.48612922G>T | CA2628338211 | FBN1 | c.247+88C>A (n.247+88C>A)
| gnomAD v4 |
15 | g.48612923T>C | CA2175574419 | FBN1 | c.247+87A>G (n.247+87A>G)
| dbSNP |
15 | g.48612923T= | CA2175574418 | FBN1 | c.247+87A= (n.247+87A=)
| |
15 | g.48612926C>A | CA2175574421 | FBN1 | c.247+84G>T (n.247+84G>T)
| dbSNP gnomAD v4 |
15 | g.48612926C= | CA2175574420 | FBN1 | c.247+84G= (n.247+84G=)
| |
15 | g.48612926C>G | CA969557346 | FBN1 | c.247+84G>C (n.247+84G>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612927A= | CA2175574422 | FBN1 | c.247+83T= (n.247+83T=)
| |
15 | g.48612927A>G | CA270060683 | FBN1 | c.247+83T>C (n.247+83T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612927A>T | CA2175574423 | FBN1 | c.247+83T>A (n.247+83T>A)
| dbSNP gnomAD v4 |
15 | g.48612928A>C | CA2592751662 | FBN1 | c.247+82T>G (n.247+82T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612930_48612937del | CA2523632711 | FBN1 | c.247+74_247+81del (n.247+74_247+81del)
| |
15 | g.48612930A>G | CA2730790397 | FBN1 | c.247+80T>C (n.247+80T>C)
| dbSNP |
15 | g.48612931G>A | CA2628338212 | FBN1 | c.247+79C>T (n.247+79C>T)
| gnomAD v4 |
15 | g.48612931G>C | CA713375084 | FBN1 | c.247+79C>G (n.247+79C>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.48612931G= | CA2175574425 | FBN1 | c.247+79C= (n.247+79C=)
| |
15 | g.48612931G>T | CA2175574424 | FBN1 | c.247+79C>A (n.247+79C>A)
| dbSNP gnomAD v4 |
15 | g.48612932G>T | CA2575717792 | FBN1 | c.247+78C>A (n.247+78C>A)
| gnomAD v4 |
15 | g.48612933C= | CA2175574426 | FBN1 | c.247+77G= (n.247+77G=)
| |
15 | g.48612933C>T | CA270060697 | FBN1 | c.247+77G>A (n.247+77G>A)
| dbSNP gnomAD v4 |
15 | g.48612936C>A | CA2628338213 | FBN1 | c.247+74G>T (n.247+74G>T)
| gnomAD v4 |
15 | g.48612936C= | CA2175574427 | FBN1 | c.247+74G= (n.247+74G=)
| |
15 | g.48612936C>T | CA270060706 | FBN1 | c.247+74G>A (n.247+74G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48612937A= | CA2175574428 | FBN1 | c.247+73T= (n.247+73T=)
| |
15 | g.48612937A>C | CA2175574429 | FBN1 | c.247+73T>G (n.247+73T>G)
| dbSNP |